[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].

[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].

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Alpha-thalassemia/mental retardation syndrome (ATR-X) is a neurodevelopmental disorder with characteristic clinical picture as well as presence of pathognomonic haemoglobin H inclusions (HbH) on peripheral blood examination. Typical features of this condition are: severe intellectual impairment, mus...

Полное описание

Библиографические подробности
Главные авторы:	Szczałuba, K, Obersztyn, E, Nowakowska, B, Bernaciak, J, Fisher, C, Gibbons, R, Mazurczak, T, Bocian, E
Формат:	Journal article
Язык:	Polish
Опубликовано:	2011

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